ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)

gnomAD frequency: 0.00081  dbSNP: rs114030714
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951726 SCV001098154 likely benign Carnitine palmitoyl transferase 1A deficiency 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001558613 SCV001780602 uncertain significance not provided 2020-04-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Natera, Inc. RCV000951726 SCV001457993 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003970727 SCV004785783 likely benign CPT1A-related disorder 2022-03-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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